Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients
Jazyk angličtina Země Spojené státy americké Médium print
Typ dokumentu časopisecké články, práce podpořená grantem
PubMed
11524740
DOI
10.1002/humu.1185
PII: 10.1002/humu.1185
Knihovny.cz E-zdroje
- MeSH
- alely MeSH
- cholesterol krev MeSH
- DNA chemie genetika MeSH
- frekvence genu MeSH
- hyperlipoproteinemie typ II krev genetika MeSH
- inzerční mutageneze MeSH
- LDL-cholesterol krev MeSH
- LDL-receptory genetika MeSH
- lidé MeSH
- missense mutace MeSH
- mutace MeSH
- mutační analýza DNA MeSH
- nesmyslný kodon MeSH
- sekvenční delece MeSH
- triglyceridy krev MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Československo MeSH
- Názvy látek
- cholesterol MeSH
- DNA MeSH
- LDL-cholesterol MeSH
- LDL-receptory MeSH
- nesmyslný kodon MeSH
- triglyceridy MeSH
The aim of our study was to define mutations causing familial hypercholesterolemia (FH) phenotype in Czech hypercholesterolemic individuals. A combination of heteroduplex analysis, SSCP, DGGE, DNA sequencing and PCR/restriction analysis was used for this purpose. Molecular searching in the promoter region and coding sequence of the low density lipoprotein receptor (LDLR) gene in 130 patients from 68 unrelated families resulted in the identification of 37 sequence variations. Thirty of them are most likely disease causing mutations. Nineteen mutations were novel (two nonsense, five missense, six nucleotide(s) insertions and six nucleotide(s) deletions). Their pathological effect can be predicted on the basis of their position with respect to previously reported mutations with an estimated reduction of the receptor activity and/or premature termination of translation. These results expand our knowledge of mutations responsible for FH. Seven nucleotide variations were characterized as silent polymorphisms. Hum Mutat 18:253, 2001.
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